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Patterns of Inheritance & Mutations: Presented by S. Anita Mercy M. SC (N) I Year

This document discusses patterns of inheritance and mutations. It explains that genes are made up of DNA located on chromosomes, and that DNA is read in groups of 3 nucleotides called codons. Mutations are permanent changes in the DNA sequence that can alter protein production. Mutations can be inherited from parents or occur during life due to environmental factors. There are different types of mutations including point mutations, which change a single nucleotide, and frameshift mutations, which change the reading frame of codons. Chromosomal mutations involve changes in chromosome structure, number or arrangement.

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613 views

Patterns of Inheritance & Mutations: Presented by S. Anita Mercy M. SC (N) I Year

This document discusses patterns of inheritance and mutations. It explains that genes are made up of DNA located on chromosomes, and that DNA is read in groups of 3 nucleotides called codons. Mutations are permanent changes in the DNA sequence that can alter protein production. Mutations can be inherited from parents or occur during life due to environmental factors. There are different types of mutations including point mutations, which change a single nucleotide, and frameshift mutations, which change the reading frame of codons. Chromosomal mutations involve changes in chromosome structure, number or arrangement.

Uploaded by

Jennifer Dixon
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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PATTERNS OF INHERITANCE

&
MUTATIONS

Presented by
S. Anita mercy
M. Sc (N) I Year
GENES & CHROMOSOMES
Genes are relatively small sections
of DNA which encodes for proteins
Chromosomes are
made up of genes &
genes are made
up of DNA

CODONS
DNA has 2 polypeptide chains. Each has 4
bases- 2 purines(adenine,guanine) & 2
pyrimidines(cytosine,thymine/uracil)
Genetic code is read in groups of 3
nucleotides, each representing 1 aminoacid.
Each trinucleotide sequence is called codons.
E. g) UTG CAG CAT

DNA-CODONS
MUTATIONS
A mutation is a permanent change in the DNA
sequence of a gene. Mutations in a gene's
DNA sequence can alter the amino acid
sequence of the protein encoded by the gene.
Mutations range in size from a single DNA
building block (DNA) base to a large segment
of a chromosome.
POLYMORPHISM
Genetic changes that occur in more than 1%
of the population are called polymorphism
They are common enough to be considered a
normal variation in the DNA
They are responsible for many of the normal
differences between people such as eye color,
hair color and blood type
Though they have no negative effects on a
persons health, some may influence the risk
of developing certain disorders

POLYMORPHISM contd
Although all polymorphisms are the result of a
mutation in the gene, geneticists only refer to
a change as a mutation when it is not part of
the normal variations between people.
MOSAICISM
Mutations may also occur in a single cell
within an embryo. As all the cells divide during
growth and development, the individual will
have some mutated cells and some cells
without the genetic change. This is called
mosaicism.
HOW DO MUTATIONS OCCUR?
.In two ways
1. Mutations can be inherited from a parent
2. Mutations can be occurred during a persons
life time.

CLASSIFICATION OF MUTATIONS
BASED ON OCCURENCE

HEREDITARY MUTATIONS
Other name Germline mutations
They are present in egg and germ cells
Passed from parent to child
Present throughout a persons life in virtually
every cell of the body.
ACQUIRED MUTATIONS
Other name Somatic muations
Occur in the DNA of individual cells at some
time during a persons life
Caused by environmental factors such as UV
radiation from the sun or during DNA copying
of cell division
Cannot be passed on to the next generation
TYPES OF MUTATIONS

GENE MUTATIONS
CHROMOSOME
MUTATIONS
GENE MUTATIONS
It is a permanent change in the DNA
sequence that makes up a gene.



POINT
MUTATIONS
FRAMESHIFT
MUTATIONS
TYPES
POINT MUATIONS/SINGLE BASE MUTATIONS

A single nucleotide base is replaced by
another either by transition or transversion
Transition: A purine replaces a purine or a
pyrimidine replaces a pyrimidine
Transversion: A purine replaces a pyrimidine
or vice versa

INSERTION
Insertions are mutations in which extra base pairs
are inserted into a new place in the DNA.
CTGGAG
CTGGTGGAG
DELETION
Deletions are mutations in which a section of
DNA is lost, or deleted.
CTGGAG
CTAG
SUBSTITUTION
A substitution is a mutation that exchanges one
base for another
TYPES
1. MISSENSE MUTATIONS: change a codon to one
that encodes a different amino acid and cause a
small change in the protein produced.
E. g)In Sickle-cell disease, the replacement of A
by T at the 17th nucleotide of the gene for the
beta chain of hemoglobin changes the codon
GAG (for glutamic acid) to GTG (which encodes
valine). Thus the 6th amino acid in the chain
becomes valine instead of glutamic acid.
2. NONSENSE MUTATIONS
Change an amino-acid-coding codon to a
single "stop" codon and cause an incomplete
protein. This can have serious effects since the
incomplete protein probably won't function.

3. SILENT MUTATIONS
Change a codon to one that encodes the same
amino acid and causes no change in the
protein produced


FRAMESHIFT MUTATIONS
A similar error occurs at the DNA level (either
by deletion or by insertion) , causing the
codons to be parsed incorrectly. This usually
generates truncated proteins
E. g) Consider the sentence, "The fat cat sat."
Each word represents a codon. If we delete
the first letter ("hef atc ats at) and parse the
sentence in the same way, it doesn't make
sense.
INSERTION
Insertions are mutations in which extra base pairs
are inserted into a new place in the DNA.
CTGGAG
CTGGTGGAG
DELETION
Deletions are mutations in which a section of
DNA is lost, or deleted.
CTGGAG
CTAG

CHROMOSOMAL MUTATIONS
Any change in the structure or arrangement or
number of the chromosomes
Translocation: Shifting of chromosomal
segments
Inversion : Chromosomal segments rotates
180 degree around the same point
Duplication : Addition of chromosomal
segments
Deletion: Deletion of chromosomal segments
CHROMOSOMAL MUTATIONS
CONTD.
Aneuploidy: - Gain or loss of individual
chromosomes
- Results from non disjunction
Disorders involving autosomes: Trisomy 21, 13 &
trisomy18
Disorders involving sex chromosomes: Turners
syndrome(45,XO) & Klinefelters
syndrome(47,XXY)

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